Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease

We herein describe the first Chinese case of Canavan disease diagnosed by biochemical analysis and confirmed by DNA studies. We report two novel mutations: c.2T>C/M1T, an initiation codon mutation, and c.209A>G/N70S, which is located at the enzyme–substrate binding site. The combination of these two mutations resulted in a congenital form of Canavan disease.